{"id":7363,"date":"2022-06-14T20:42:45","date_gmt":"2022-06-14T18:42:45","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/06\/14\/reversibler-phaenotyp-bei-maeusen\/"},"modified":"2022-11-13T13:19:33","modified_gmt":"2022-11-13T13:19:33","slug":"reversibler-phaenotyp-bei-maeusen","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/reversibler-phaenotyp-bei-maeusen\/","title":{"rendered":"Reversibler Ph\u00e4notyp bei M\u00e4usen"},"content":{"rendered":"<p><strong>El Prof. Huda Zoghbi et al (Baylor College of Medicine, Texas, EE.UU.) publicaron un art\u00edculo en la revista Nature titulado \"Reversibler Ph\u00e4notyp bei M\u00e4usen durch die Verwendung von genetischer Rettung oder Antisense-Oligonukleotiden\". En este art\u00edculo se describen los resultados de la utilizaci\u00f3n de ASO (Antisense-Oligonukleotiden) en la regulaci\u00f3n de los esp\u00e9culos MeCP2 y en el tratamiento de las alteraciones morfol\u00f3gicas, moleculares y electrofisiol\u00f3gicas en un modelo de tratamiento con MeCP2-Genduplikation.<\/strong><\/p>\n\n\n\n<p>Reversi\u00f3n de fenotipos en ratones con duplicaci\u00f3n de MECP2 mediante rescate gen\u00e9tico u oligonucle\u00f3tidos antisentido, Huda Zoghbi <em>et al,<\/em> <em>Naturaleza<\/em><strong> 528, <\/strong>123-126 (2015)<\/p>\n\n\n\n<p><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n\n<p><strong>ZUSAMMENFASSUNG DES ARTIKELS: (\u00dcbersetzt aus dem Englischen):<\/strong><\/p>\n\n\n\n<p>Una variaci\u00f3n de la concentraci\u00f3n de prote\u00ednas se asocia a menudo con trastornos del desarrollo, trastornos del comportamiento y autismo. El S\u00edndrome de MECP2-Genduplikation es uno de los trastornos gen\u00f3micos m\u00e1s comunes en j\u00f3venes y se caracteriza por un espectro autista, discapacidad severa, disfunci\u00f3n motora, trastornos de ansiedad, ataques epil\u00e9pticos, infecciones del entorno y muerte prematura.<\/p>\n\n\n\n<p>La gran variabilidad de la disfunci\u00f3n, que se produce debido a la sobreexpresi\u00f3n de las prote\u00ednas MeCP2, plantea una gran necesidad de tratamientos m\u00e9dicos que tengan en cuenta aspectos bioqu\u00edmicos. Por este motivo, estamos estudiando estrategias terap\u00e9uticas que incidan directamente sobre la prote\u00edna MeCP2 y que tengan el potencial de ser aplicadas en un tratamiento cl\u00ednico.<\/p>\n\n\n\n<p>La primera pregunta que nos planteamos fue si la disfunci\u00f3n neurol\u00f3gica despu\u00e9s de la aparici\u00f3n de s\u00edntomas es reversible. En algunos modelos de alteraciones monog\u00e9nicas de las funciones neurol\u00f3gicas se observ\u00f3 la presencia de fenotipos en casos de enfermedades sintom\u00e1ticas, especialmente en la alteraci\u00f3n de MeCP2 en el s\u00edndrome de Rett. Esto significa que, al menos en algunas partes, la neuroanatom\u00eda puede verse afectada de forma significativa, por lo que la causa de estas alteraciones, una disfunci\u00f3n molekular relacionada con el tiempo, puede dar lugar a una fisiolog\u00eda m\u00e1s saludable.<\/p>\n\n\n\n<p>Teniendo en cuenta que en el s\u00edndrome de duplicaci\u00f3n de MECP2 no se produce neurodegeneraci\u00f3n (alteraci\u00f3n de las c\u00e9lulas nerviosas en el cuerpo), creemos que el aumento de la densidad normal del esp\u00e9cimen MeCP2 en los hombres con duplicaci\u00f3n de MECP2 puede afectar a su enfermedad.<\/p>\n\n\n\n<p>A trav\u00e9s de la investigaci\u00f3n y caracterizaci\u00f3n de un modelo de rat\u00f3n basado en MECP2, se demuestra que la funci\u00f3n del esp\u00e9cimen MeCP2 es la principal causa de la enfermedad en el medio ambiente, a nivel molecular y electrofisiol\u00f3gico.<\/p>\n\n\n\n<p>Tambi\u00e9n hemos reducido la MeCP2 con una estrategia antisentido-oligonucle\u00f3tido (ASO), que tiene un mayor potencial de crecimiento.<\/p>\n\n\n\n<p>Los oligonucle\u00f3tidos en antisentido son peque\u00f1os nucle\u00f3tidos modificados que pueden combinarse selectivamente con ARNm de origen vegetal transcriptado (ARNm) y, por tanto, modificarse de forma permanente. Se utilizaron con \u00e9xito para corregir deficiencias en distintos modelos de rat\u00f3n.<\/p>\n\n\n\n<p>Nuestro objetivo es demostrar que la oligonucle\u00f3tida en antisentido mejora de forma significativa el crecimiento de los p\u00f3lipos en pacientes sintom\u00e1ticos, transg\u00e9nicos y que han sufrido una duplicaci\u00f3n de MECP2, as\u00ed como mejorar el espectro de MECP2 en c\u00e9lulas linfobl\u00e1sticas de pacientes con duplicaci\u00f3n de MECP2.<\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button is-style-fill\"><a class=\"wp-block-button__link has-white-color has-text-color has-background wp-element-button\" href=\"https:\/\/www.nature.com\/articles\/nature16159\" style=\"border-radius:10px;background-color:#f7a13f\">B\u00fasqueda de publicaciones<\/a><\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>Prof. Huda Zoghbi et al. (Baylor College of Medicine, Texas, USA) ver\u00f6ffentlichen in der Zeitschrift Nature einen Artikel mit dem Titel \u00ab\u00a0Reversibler Ph\u00e4notyp bei M\u00e4usen durch die Verwendung von genetischer [&hellip;]<\/p>","protected":false},"author":1,"featured_media":6891,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[58],"tags":[],"class_list":["post-7363","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-publikationen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Reversibler Ph\u00e4notyp bei M\u00e4usen - DupMECP2<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dupmecp2.eu\/es\/reversibler-phaenotyp-bei-maeusen\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Reversibler Ph\u00e4notyp bei M\u00e4usen - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Prof. Huda Zoghbi et al. 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